Biomedical subjects

M G Domínguez

Publications and source records attributed to M G Domínguez.

7 recordsLinked to original sources

PubMed2006

Constitutional duplication 11q23 de novo involving the MLL gene.

We report a child with mental retardation, brain anomalies and congenital heart defect. His karyotype, after G-banding and FISH with a whole chromosome probe for chromosome 11 and a locus-specific probe for the MLL gene, was 46,XY,dup(11)(q23q23).ish dup(11)(q23q23)(wcp11+, MLL++) de novo; i.e., he had a pure partial 11q23 duplication. Clinical and cytogenetic findings of the present case were compared with the 7 previously reported cases with pure partial trisomy 11q; in 6/8 cases the region 11q23 was involved. We conclude that the scarce number of cases and their heterogeneity do not allow to establish a reliable genotype-phenotype correlation.

Brain↗

PubMed2003

Bovine herpes virus gD protein produced in plants using a recombinant tobacco mosaic virus (TMV) vector possesses authentic antigenicity.

A tobacco mosaic virus (TMV)-based vector was utilized for expression of a cytosolic form of the bovine herpesvirus type 1 (BHV-1) protein glycoprotein D (gDc). Nicotiana benthamiana plants were harvested 7 days after inoculation with RNA transcripts derived from the TMV-gDc recombinant virus. Recombinant gDc protein of expected electrophoretic mobility accumulated in inoculated leaves to a concentration of about 20 micrograms/g of fresh leaf tissue. Oil-based vaccines were formulated with crude foliar extracts to immunize mice parentally. After a single injection, animals developed a sustained and specific response to both the isolated gD and native virus particles. Cattle vaccinated with the same gDc containing extracts developed specific humoral and cellular immune responses directed against both the viral gD and BHV-1 particles. Most importantly, animals vaccinated with the plant-produced gDc showed good levels of protection after challenge with the virulent BHV-1. Virus excretion was drastically reduced in these animals, reaching levels comparable to animals vaccinated with a commercial BHV-1 vaccine. The positive immunological characterization obtained for the gDc, indicated that an important part of the natural conformation was retained in the plant recombinant protein.

Animals↗

PubMed2001

In search of a 9q13 latent centromere in 9qh polymorphic inversions.

In search of a 9q13 latent centromere in 9qh polymorphic inversions: The presence of alphoid sequences in 9q13 has prompted the suggestion that such a region could harbor a latent centromere which under certain circumstances may appear as a neocentromere. We tested this hypothesis by means of FISH with a centromere 9-specific alphoid probe in lymphocyte metaphases from 13 unrelated individuals with a 9qh polymorphic inversion. Since all inverted chromosomes had the alphoid signal onto the primary constriction, it was not possible to identify any neocentromere . We believe, however, that the number of cases was not enough to conclude that all the polymorphic inversions of chromosome 9 are genuine.

Base Sequence↗

PubMed1997

C-anaphases (common variant) are unrelated to colchicine and phytohemagglutinin.

We evaluated the effect of different concentrations of colchicine (0.0, 0.1, 0.3, 0.5 microgram/ml) and phytohemagglutinin (PHA) (0.10, 0.15, 0.20 microgram/ml) on the rate of C-anaphases in lymphocyte cultures from five healthy individuals with the common variant of C-anaphases. For each of the 12 possible combinations, two subjects were randomly tested. The frequency of these variant figures was < 3%; a single-culture (out of six with the colchicine concentration of 0.1 microgram/ml) lacked C-anaphases. Multiple variance and Student's t tests revealed, as the only significant difference, a decrease with the colchicine concentration of 0.3 microgram/ml compared with the cultures without colchicine (p < 0.05), which exhibited the greatest ratio of C-anaphases. The PHA had no influence on the frequency of C-anaphases. We conclude that the common variant of C-anaphases is unrelated to the colchicine and PHA concentrations tested; moreover, our data confirm the occurrence of such a mitotic variant in colchicine-free cultures.

Adult↗

PubMed1993

Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y.

A 12-year-old patient with Turner syndrome was found to have a complex mosaicism for a microchromosome (MC) and a psu dic(Y)(q11). The MC was smaller than Yp, appeared pale in G, C and late replicating bands, had a pair of small centromeric dots, was associated with other chromosomes in most metaphases, and was rather stable both in size and during mitosis. The psu dic(Y) was Cd-positive only at the active centromere, had two pericentromeric heterochromatic regions, and lacked the Yq12 band. No cells with both abnormal chromosomes were found. To evaluate the association of the MC with all ordinary chromosomes, 857 G-banded cells with the marker were screened. The MC was considered as "associated" whenever the distance between it and other chromosome(s) was equal to, or smaller than, 18p. Out of 848 associations registered, 489 (57.7%) were centromeric, 202 (23.8%) telomeric, and 157 (18.5%) interstitial; i.e., centromeric associations were overrepresented (P < 0.001) and showed a random distribution, except for an excessive involvement of chromosome 8. This association pattern, also exhibited by two similar MCs in human beings, the minute Y of a marsupial and certain B chromosomes in plants, probably reflects the Rabl orientation of chromosomes in interphase.

Centromere↗

PubMed1993

[Toxinology of bovine paraplegic syndrome].

A clinical entity named "Bovine Paraplegic Syndrome" ("Síndrome Parapléjico de los Bovinos") has spread alarmingly, in the cattle growing areas of the central and eastern plains of Venezuela. Approximately four million cattle are bread in the area were the disease occurs. The mortality index due to the disease ranges 5 to 25% of the animals at risk, mostly cows, pregnant or lactating. The principal characteristic of the bovine paraplegic syndrome is decubitus, ventral or sternal, in animals that make vane efforts to stand when stimulated. The diagnosis is established ruling out, clinically and with laboratory findings, that the animals are suffering known diseases with similar symptoms such as paralytic rabies, botulism and blood parasites such Trypanosoma sp., Babesia sp., and Anaplasma sp.. Death occurs always, usually after few days, and to this date there is no known treatment able to save the sick cows. In this work, we describe results that suggest the presence of a toxin in the cattle suffering and prone to suffer the syndrome; it is a natural toxin produced by ruminal bacteria. In squid giant axons under voltage clamp conditions, this toxin is very specific to block sodium current during nerve electrical activity.

Animals↗

PubMed1992

C-anaphases: a mitotic variant.

In order to assess the frequency of C-anaphases in colchicine-arrested lymphocyte cultures, the authors studied 100 patients classified in four groups: spontaneous abortion (n = 17), subfertility (n = 12), aneuploidy (n = 18) and miscellaneous (n = 53). At least 300 mitotic G-banded cells were scored by individual. In 12 individuals no C-anaphases were observed; in 87 individuals the range was 1-7 with a mode of 2 and a mean of 2.14; the remaining individual had 19 C-anaphases in 330 cells (5.7%). The statistical analysis did not show significant differences between the groups (p > 0.05). These data along with previous studies indicate that normally most individuals have < or = 3% of C-anaphases in habitual lymphocyte cultures. Moreover, there exists an autosomal dominant form in which individuals with the trait have > 5% of the cells with such mitotic configurations. We conclude that both the low frequency common and the high frequency familiar forms are mitotic variants without pathological significance.

Abortion, Spontaneous↗